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Cbfa2t2 CBFA2/RUNX1 translocation partner 2 [ Mus musculus (house mouse) ]

Gene ID: 12396, updated on 2-Apr-2024

Summary

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Official Symbol
Cbfa2t2provided by MGI
Official Full Name
CBFA2/RUNX1 translocation partner 2provided by MGI
Primary source
MGI:MGI:1333833
See related
Ensembl:ENSMUSG00000038533 AllianceGenome:MGI:1333833
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MTGR1; Cbfa2t2h; A430091M07; C330013D05Rik
Summary
Enables transcription corepressor activity. Involved in intestinal epithelial cell differentiation and negative regulation of Notch signaling pathway. Acts upstream of or within epithelial cell differentiation and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; blastocyst; brain; genitourinary system; and sensory organ. Orthologous to human CBFA2T2 (CBFA2/RUNX1 partner transcriptional co-repressor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 10.6), CNS E14 (RPKM 10.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Cbfa2t2 in Genome Data Viewer
Location:
2 H1; 2 76.62 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (154278018..154381276)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (154436098..154539356)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06119 Neighboring gene VISTA enhancer mm1461 Neighboring gene predicted gene, 39962 Neighboring gene STARR-seq mESC enhancer starr_06124 Neighboring gene predicted gene, 52564 Neighboring gene STARR-seq mESC enhancer starr_06127 Neighboring gene zinc finger, FYVE domain containing 21 pseudogene Neighboring gene RIKEN cDNA 1700003F12 gene Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene actin-like 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model. Barrett CW, et al. Cancer Res, 2011 Feb 15. PMID 21303973, Free PMC Article
  2. Deletion of Mtgr1 sensitizes the colonic epithelium to dextran sodium sulfate-induced colitis. Martinez JA, et al. Gastroenterology, 2006 Aug. PMID 16890610
  3. CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells. Huang H, et al. Biochem Biophys Res Commun, 2018 Feb 19. PMID 29378183
  4. The transcriptional corepressor MTGR1 regulates intestinal secretory lineage allocation. Parang B, et al. FASEB J, 2015 Mar. PMID 25398765, Free PMC Article
  5. ETO family protein Mtgr1 mediates Prdm14 functions in stem cell maintenance and primordial germ cell formation. Nady N, et al. Elife, 2015 Nov 2. PMID 26523391, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
    Title: CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
  2. the co-option of the PRDM14-CBFA2T complex from motor neurons into pluripotent cells may have maintained the transcriptional network for pluripotency during vertebrate evolution.
    Title: Co-option of the PRDM14-CBFA2T complex from motor neurons to pluripotent cells during vertebrate evolution.
  3. Collectively, our findings indicate that CBFA2T2 is required for BMP-2-induced osteogenic differentiation of MSCs through inhibition of EHMT1-mediated histone methylation at Runx2 promoter.
    Title: CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells.
  4. This repressive function is mediated through an ETO-family co-repressor Mtgr1, which tightly binds to the pre-SET/SET domains of Prdm14 and co-occupies its genomic targets in mouse embryonic stem cells.
    Title: ETO family protein Mtgr1 mediates Prdm14 functions in stem cell maintenance and primordial germ cell formation.
  5. Cbfa2t2(-/-) mice display severe defects in primordial germ cell maturation and epigenetic reprogramming
    Title: Co-repressor CBFA2T2 regulates pluripotency and germline development.
  6. MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model.
    Title: MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model.
  7. Eto2 and Mtgr1 as authentic interaction partners of Tal1 and suggest they act as heteromeric corepressors of this bHLH transcription factor during erythroid differentiation.
    Title: Eto2/MTG16 and MTGR1 are heteromeric corepressors of the TAL1/SCL transcription factor in murine erythroid progenitors.
  8. c-Myc, a transcriptional target of the Wnt pathway, was overexpressed in the small intestines of mice lacking Mtgr1, thus linking inactivation of Mtgr1 to the activation of a potent oncogene
    Title: Myeloid translocation gene family members associate with T-cell factors (TCFs) and influence TCF-dependent transcription.
  9. Loss of Mtgr1 impairs the maturation of secretory cells in the small intestine.
    Title: Mtgr1 is a transcriptional corepressor that is required for maintenance of the secretory cell lineage in the small intestine.
  10. Mtgr1 has an important role in crypt survival and regeneration after colonic epithelial ulceration.
    Title: Deletion of Mtgr1 sensitizes the colonic epithelium to dextran sodium sulfate-induced colitis.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription corepressor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intestinal epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
protein CBFA2T2
Names
CBFA2T2 identified gene homolog
MTG8-like protein
MTG8-related protein 1
core-binding factor, runt domain, alpha subunit 2, translocated to, 2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001285446.1 → NP_001272375.1  protein CBFA2T2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL772292
    Conserved Domains (3) summary
    pfam01753
    Location:281 → 317
    zf-MYND; MYND finger
    pfam08788
    Location:105 → 171
    NHR2; NHR2 domain like
    cl27055
    Location:212 → 280
    MutS_III; MutS domain III

  2. NM_009823.1 → NP_033953.1  protein CBFA2T2 isoform 2

    See identical proteins and their annotated locations for NP_033953.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AK040403, AK148027, BC064679
    Consensus CDS
    CCDS50764.1
    UniProtKB/TrEMBL
    A0A0R4J1D5
    Related
    ENSMUSP00000105347.2, ENSMUST00000109725.8
    Conserved Domains (4) summary
    pfam01753
    Location:497 → 533
    zf-MYND; MYND finger
    pfam07531
    Location:106 → 192
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:322 → 388
    NHR2; NHR2 domain like
    cl27055
    Location:433 → 496
    MutS_III; MutS domain III

  3. NM_172860.2 → NP_766448.1  protein CBFA2T2 isoform 1

    See identical proteins and their annotated locations for NP_766448.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AK148027, BC064679
    Consensus CDS
    CCDS16932.1
    UniProtKB/Swiss-Prot
    B2RRH8, O70374, Q30BK8, Q6P288
    Related
    ENSMUSP00000043087.9, ENSMUST00000045270.15
    Conserved Domains (4) summary
    pfam01753
    Location:498 → 534
    zf-MYND; MYND finger
    pfam07531
    Location:106 → 192
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:322 → 388
    NHR2; NHR2 domain like
    cl27055
    Location:429 → 497
    MutS_III; MutS domain III

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    154278018..154381276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157841.1 → XP_036013734.1  protein CBFA2T2 isoform X6

    UniProtKB/TrEMBL
    F6WYU8
    Related
    ENSMUSP00000118371.2, ENSMUST00000137526.2
    Conserved Domains (3) summary
    PRK00409
    Location:161 → 229
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam08788
    Location:54 → 120
    NHR2; NHR2 domain like
    pfam01753
    Location:230 → 266
    zf-MYND; MYND finger

  2. XM_006498642.3 → XP_006498705.1  protein CBFA2T2 isoform X4

    Conserved Domains (4) summary
    PRK00409
    Location:255 → 323
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam01753
    Location:324 → 360
    zf-MYND; MYND finger
    pfam07531
    Location:106 → 191
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:171 → 214
    NHR2; NHR2 domain like

  3. XM_036157840.1 → XP_036013733.1  protein CBFA2T2 isoform X5

    Conserved Domains (4) summary
    PRK00409
    Location:259 → 322
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam08788
    Location:171 → 214
    NHR2; NHR2 domain like
    pfam01753
    Location:323 → 359
    zf-MYND; MYND finger
    pfam07531
    Location:106 → 191
    TAFH; NHR1 homology to TAF

  4. XM_006498641.2 → XP_006498704.1  protein CBFA2T2 isoform X2

    Conserved Domains (4) summary
    PRK00409
    Location:381 → 449
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam01753
    Location:450 → 486
    zf-MYND; MYND finger
    pfam07531
    Location:58 → 147
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:274 → 340
    NHR2; NHR2 domain like

  5. XM_030247023.1 → XP_030102883.1  protein CBFA2T2 isoform X3

    Conserved Domains (4) summary
    PRK00409
    Location:385 → 448
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam01753
    Location:449 → 485
    zf-MYND; MYND finger
    pfam07531
    Location:58 → 147
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:274 → 340
    NHR2; NHR2 domain like

  6. XM_006498640.4 → XP_006498703.1  protein CBFA2T2 isoform X1

    See identical proteins and their annotated locations for XP_006498703.1

    UniProtKB/Swiss-Prot
    O70374
    Conserved Domains (4) summary
    PRK00409
    Location:409 → 477
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    pfam01753
    Location:478 → 514
    zf-MYND; MYND finger
    pfam07531
    Location:86 → 175
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:302 → 368
    NHR2; NHR2 domain like
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O70374.3 GenPept UniProtKB/Swiss-Prot:O70374

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